Mutagenetix > Incidental Mutation

Incidental Mutation 'R8241:Hic2'

637574

Institutional Source

Beutler Lab

Gene Symbol

Hic2

Ensembl Gene

ENSMUSG00000050240

Gene Name

hypermethylated in cancer 2

Synonyms

HRG22

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R8241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17051451-17081294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17076950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 593 (Y593C)

Ref Sequence

ENSEMBL: ENSMUSP00000087656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090190] [ENSMUST00000115698]

AlphaFold

Q9JLZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090190
AA Change: Y593C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: Y593C

Domain	Start	End	E-Value	Type
BTB	46	143	6.83e-23	SMART
low complexity region	213	240	N/A	INTRINSIC
low complexity region	244	266	N/A	INTRINSIC
low complexity region	380	391	N/A	INTRINSIC
low complexity region	406	423	N/A	INTRINSIC
ZnF_C2H2	446	468	2.49e-1	SMART
low complexity region	477	493	N/A	INTRINSIC
ZnF_C2H2	509	531	8.47e-4	SMART
ZnF_C2H2	537	559	2.3e-5	SMART
ZnF_C2H2	565	587	1.13e-4	SMART
ZnF_C2H2	593	615	1.69e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115698

SMART Domains

Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240

Domain	Start	End	E-Value	Type
BTB	46	143	6.83e-23	SMART
low complexity region	213	240	N/A	INTRINSIC
low complexity region	244	266	N/A	INTRINSIC
low complexity region	380	391	N/A	INTRINSIC
low complexity region	406	423	N/A	INTRINSIC
ZnF_C2H2	446	468	2.49e-1	SMART
low complexity region	477	493	N/A	INTRINSIC
ZnF_C2H2	509	531	8.47e-4	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 98.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene results in embryonic lethality. A subset of mice heterozygous for a knock-out allele exhibit prenatal lethality and cardiac defects including a ventricular septal defect with overriding aortic valve, and thin myocardial and trabecular layers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,079,456 (GRCm39)	R1233G	probably null	Het
Acacb	A	T	5: 114,333,297 (GRCm39)	I474F	possibly damaging	Het
Adora1	A	T	1: 134,131,062 (GRCm39)	V203D	probably damaging	Het
Aff4	A	G	11: 53,290,998 (GRCm39)	S653G	probably benign	Het
Agtr1a	T	C	13: 30,565,082 (GRCm39)	V49A	probably damaging	Het
Ahnak	T	C	19: 8,984,659 (GRCm39)	V1981A	probably benign	Het
Arhgap5	T	G	12: 52,565,098 (GRCm39)	Y690D	probably benign	Het
Bbs9	A	G	9: 22,590,214 (GRCm39)	I651V	probably benign	Het
Brms1	C	T	19: 5,096,007 (GRCm39)	A27V	probably benign	Het
Camta1	A	G	4: 151,168,282 (GRCm39)	V256A	probably benign	Het
Capg	G	T	6: 72,533,236 (GRCm39)		probably null	Het
Chpt1	T	C	10: 88,288,953 (GRCm39)	K154E		Het
Cyp1b1	T	C	17: 80,021,223 (GRCm39)	E173G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw27	T	G	9: 109,602,283 (GRCm39)	N230T	possibly damaging	Het
Fer1l4	T	C	2: 155,891,585 (GRCm39)	T126A	probably benign	Het
Fut10	C	A	8: 31,750,034 (GRCm39)	S440*	probably null	Het
Gbf1	T	C	19: 46,234,576 (GRCm39)	V71A	probably damaging	Het
Gpatch8	T	C	11: 102,378,347 (GRCm39)	E201G	unknown	Het
Hlcs	A	T	16: 94,068,677 (GRCm39)	V181E	probably damaging	Het
Itpr2	A	T	6: 146,320,013 (GRCm39)	I176N	possibly damaging	Het
Kcna2	G	T	3: 107,012,338 (GRCm39)	K306N	probably damaging	Het
Kcnb1	A	G	2: 166,948,117 (GRCm39)	Y244H	probably damaging	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mapk14	T	A	17: 28,934,374 (GRCm39)	D88E	possibly damaging	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mrpl1	T	A	5: 96,386,733 (GRCm39)	L241I	probably damaging	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Nfkb2	T	A	19: 46,296,054 (GRCm39)	D186E	probably benign	Het
Or3a1b	G	A	11: 74,013,035 (GRCm39)	V307I	probably benign	Het
Plcl1	A	G	1: 55,734,976 (GRCm39)	I106V	probably benign	Het
Ppp4r2	A	G	6: 100,842,044 (GRCm39)	I168M	probably damaging	Het
Prpf4b	A	T	13: 35,079,974 (GRCm39)	K779N	probably damaging	Het
Qrich1	T	C	9: 108,433,760 (GRCm39)		probably null	Het
Rgs12	T	C	5: 35,123,117 (GRCm39)	F300S	probably damaging	Het
Sart3	T	A	5: 113,884,029 (GRCm39)	K661M	probably benign	Het
Scyl2	T	C	10: 89,489,971 (GRCm39)	I464V	possibly damaging	Het
Sema5a	A	G	15: 32,575,064 (GRCm39)	T391A	probably benign	Het
Sh3bgr	A	G	16: 96,025,070 (GRCm39)	T183A	unknown	Het
Sh3rf3	C	T	10: 58,940,242 (GRCm39)	P688S	probably benign	Het
Themis3	T	C	17: 66,866,962 (GRCm39)	T93A	probably benign	Het
Thsd7b	T	A	1: 130,117,688 (GRCm39)	S1402T	probably damaging	Het
Ubr1	A	T	2: 120,793,937 (GRCm39)	D82E	possibly damaging	Het
Vmn1r223	T	C	13: 23,433,982 (GRCm39)	F192S	probably benign	Het
Vmn2r98	A	G	17: 19,301,031 (GRCm39)	K678E	probably damaging	Het
Vps13d	G	T	4: 144,875,047 (GRCm39)	T1826N		Het
Vps41	A	G	13: 19,033,168 (GRCm39)	D633G	possibly damaging	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het

Other mutations in Hic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01821:Hic2	APN	16	17,075,695 (GRCm39)	missense	probably benign	0.00
IGL02021:Hic2	APN	16	17,076,617 (GRCm39)	missense	probably benign	0.01
IGL02310:Hic2	APN	16	17,075,621 (GRCm39)	missense	probably damaging	1.00
IGL03049:Hic2	APN	16	17,075,800 (GRCm39)	missense	probably benign	0.00
R0256:Hic2	UTSW	16	17,075,377 (GRCm39)	missense	probably benign	0.00
R1433:Hic2	UTSW	16	17,076,686 (GRCm39)	missense	probably benign
R1771:Hic2	UTSW	16	17,076,578 (GRCm39)	missense	probably benign	0.43
R1774:Hic2	UTSW	16	17,076,511 (GRCm39)	missense	probably damaging	1.00
R1954:Hic2	UTSW	16	17,076,857 (GRCm39)	missense	probably damaging	1.00
R2207:Hic2	UTSW	16	17,075,324 (GRCm39)	missense	possibly damaging	0.69
R5027:Hic2	UTSW	16	17,076,611 (GRCm39)	missense	possibly damaging	0.90
R5344:Hic2	UTSW	16	17,075,712 (GRCm39)	missense	probably benign	0.21
R7154:Hic2	UTSW	16	17,076,806 (GRCm39)	missense	possibly damaging	0.88
R7423:Hic2	UTSW	16	17,075,993 (GRCm39)	missense	probably damaging	1.00
R7593:Hic2	UTSW	16	17,076,979 (GRCm39)	missense	probably damaging	0.98
R8082:Hic2	UTSW	16	17,076,563 (GRCm39)	missense	probably damaging	0.98
R8154:Hic2	UTSW	16	17,076,344 (GRCm39)	missense	probably benign	0.05
R8511:Hic2	UTSW	16	17,075,874 (GRCm39)	missense	possibly damaging	0.84
R9514:Hic2	UTSW	16	17,076,293 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TTCCCCTGCAACATTTGTGG -3'
(R):5'- TACTGTTGATTAAAGCTCTGGGC -3'

Sequencing Primer
(F):5'- CCCTGCAACATTTGTGGAAAGATG -3'
(R):5'- CAGGAGCCTCATGTCAGACTTTG -3'

Posted On

2020-07-13